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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNC2H1

Variant:p.S1895delFs

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DYNC2H1

NM_001377.3:p.S1895delFs

hg38:chr11:103176240 GA>G

Associated Papers

Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.

Park HS et al.

Journal of Korean Medical Science, 2025

40296824 (PubMed )

Supplement: jkms-40-e54-s001.xls › causative_variants_by_patientno

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."